IMPE Abstracts

Human growth is highly dependent on the GH-IGF-I axis. GH binding to GH receptor activates janus kinase 2 (JAK2)-signal transducer and activator of transcription 5b (STAT5b) pathway which stimulates transcription of IGF1, IGFBP3, and IGFALS. Although STAT5b deficiency was established as an autosomal recessive disorder, heterozygous dominant-negative STAT5B variants were reported in patients with less severe growth deficit and milder immune dysfunction. Our aim was to develop a...

Introduction: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome caused by genetic or epigenetic defects within the chromosome 11p15.5 region. BWS growth pattern with accelerated growth during infancy is widely known, and whenever there is a change in the expected growth, further investigation is warranted.Objective: To describe a patient with BWS and growth failure.Case report:</s...

Introduction: MS-MLPA is a specific and sensitive technique for detecting copy number variants and methylation defects in the regions of interest associated with imprinting diseases as Beckwith-Wiedemann (BWS) and Silver Russell (SRS) syndromes and. Both are growth disorders associated with opposite molecular alterations in the 11p15.5 imprinting locus.Aim: To analyze the diagnostic efficiency of MS-MLPA in a cohort of p...

Introduction: SOFT syndrome (MIM#614813), denoting Short stature, Onychodysplasia, Facial dysmorphism, and hypoTrichosis, is a rare primordial dwarfism syndrome encompassing severe growth failure of prenatal onset, craniofacial dysmorphism, sparse hair, and digital abnormalities associated with biallelic pathogenic POC1Agene variants. Phenotypic spectrum has recently been expanded to include insulin resistance (IR) and muscle cramps.<p class="abst...

Introduction: Short Stature (SS), defined as height below -2 SD, is a common reason for referral to pediatric endocrinologists. Genetic factors determine ~80% of adult height. Lately, next-generation sequencing (NGS) has led to the discovery of an increasing number of novel monogenic causes for SS.Objective: The aim of this work was to identify the genetic etiology of SS of unknown origin (SSUO) in children.<p class=...

Introduction: Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction, relative macrocephaly and protruding forehead in early life, body asymmetry and feeding difficulties. Although several genetic mechanisms that cause the syndrome are known, more than 40% of patients with an SRS-like phenotype remains without an etiological diagnosis. In the last few years, clinical reports have suggested that single...

Introduction: Most paediatric rare diseases have an underlying genetic cause but making a molecular diagnosis is often still a challenge. The incorporation of Next Generation Sequencing (NGS) technologies into research and clinical workflows has improved the diagnosis of these disorders.Objective: To evaluate the process of NGS implementation for the diagnosis of genetic endocrine diseases in a tertiary public paediatric...